Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.
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PLoS One. 2024 Jun 13;19(6):e0305422. doi: 10.1371/journal.pone.0305422. eCollection 2024.
PLoS One. 2024.
PMID: 38870140
Free PMC article.